Variant report

Variant	rs302401
Chromosome Location	chr5:151321248-151321249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:151319695..151322648-chr5:151325265..151329434,3	K562	blood:

Variant related genes	Relation type
ENSG00000254226	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1428157	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1549619	0.84[ASN][1000 genomes]
rs1549620	0.84[ASN][1000 genomes]
rs167321	0.86[ASN][1000 genomes]
rs169988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177349	0.80[CHB][hapmap];0.86[ASN][1000 genomes]
rs177350	0.86[ASN][1000 genomes]
rs182488	0.86[ASN][1000 genomes]
rs186217	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs188553	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs188554	0.83[ASN][1000 genomes]
rs1981824	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584895	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs302392	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs302393	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs302394	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs302395	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs302396	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs302397	0.86[ASN][1000 genomes]
rs302400	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs302402	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302412	0.86[ASN][1000 genomes]
rs302413	0.86[ASN][1000 genomes]
rs302414	0.86[ASN][1000 genomes]
rs302415	0.86[ASN][1000 genomes]
rs400545	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs404794	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs428264	0.92[ASN][1000 genomes]
rs433211	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6579913	0.83[ASN][1000 genomes]
rs919260	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531994	chr5:151292664-151331097	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs302401	TCOF1	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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